SIX2 gene related symptoms and diseases
All the information presented here about the SIX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SIX2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Broad nasal tip | Very Common - Between 80% and 100% cases |
| Prominent palatine ridges | Very Common - Between 80% and 100% cases |
| Premature posterior fontanelle closure | Very Common - Between 80% and 100% cases |
| Absent/hypoplastic paranasal sinuses | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SIX2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the skull base
- Metopic synostosis
- Epicanthus inversus
- Abnormality of the thyroid gland
- Wide anterior fontanel
- Small for gestational age
- Short stature
- Abnormality of the kidney
And 9 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SIX2 gene
Here you will find a list of rare diseases related to the SIX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SIX2-RELATED FRONTONASAL DYSPLASIA
Alternate names
SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd
Most common symptoms of SIX2-RELATED FRONTONASAL DYSPLASIA
- Global developmental delay
- Short stature
- Hypertelorism
- Ptosis
- Depressed nasal bridge
More info about SIX2-RELATED FRONTONASAL DYSPLASIA
SOURCES: ORPHANET
Search interest in SIX2
Potential gene panels for SIX2 gene
Renal Hypodysplasia (RHD) via SIX2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SIX2 gene.
More info about this panel United States.
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B
More info about this panel United States.
Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel that also includes the following genes: SIX2 ALX1 EFNB1 ALX3 ALX4
More info about this panel United States.
Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel that also includes the following genes: SIX2 ALX1 EFNB1 ALX3 ALX4
More info about this panel United States.
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel that also includes the following genes: SIX2 ALX1 EFNB1 ALX3 ALX4
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel Germany.
SIX2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SIX2 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 HNF1B UMOD UPK3A
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CYBB CACNA1F KNL1 TUBB6 ARFGEF2 DVL1 CASK